Canonical Allele Identifier: CA387757358

Gene: BRCA2

Linked Data

• dbSNP Id: rs1295695210
• MyVariant Identifiers: chr13:g.32953887T>C (hg19) ; chr13:g.32379750T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379750T>C , CM000675.2:g.32379750T>C	GRCh38
NC_000013.10:g.32953887T>C , CM000675.1:g.32953887T>C	GRCh37
NC_000013.9:g.31851887T>C	NCBI36
NG_012772.3:g.69271T>C , LRG_293:g.69271T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8954T>C	ENSP00000434898.2:p.Val2985Ala
ENST00000528762.2:c.*321T>C	ENSP00000433168.2:n.*321T>C
ENST00000530893.7:c.8585T>C	ENSP00000499438.2:p.Val2862Ala
ENST00000665585.2:c.*516T>C	ENSP00000499570.2:n.*516T>C
ENST00000666593.2:c.8954T>C	ENSP00000499256.2:p.Val2985Ala
ENST00000700202.2:c.8954-51T>C	ENSP00000514856.2:n.8954-51T>C
ENST00000700202.1:c.1421-51T>C	ENSP00000514856.1:n.1421-51T>C
ENST00000700203.1:n.1081T>C
ENST00000380152.8:c.8954T>C MANE Select	ENSP00000369497.3:p.Val2985Ala
ENST00000544455.6:c.8954T>C	ENSP00000439902.1:p.Val2985Ala
ENST00000614259.2:c.8962T>C	ENSP00000506251.1:n.8962T>C
ENST00000665585.1:c.1832T>C
ENST00000680887.1:c.8954T>C	ENSP00000505508.1:p.Val2985Ala
ENST00000380152.7:c.8954T>C	ENSP00000369497.3:p.Val2985Ala
ENST00000544455.5:c.8954T>C	ENSP00000439902.1:p.Val2985Ala
NM_000059.3:c.8954T>C , LRG_293t1:c.8954T>C	NP_000050.2:p.Val2985Ala
XM_011535203.1:c.8954T>C	XP_011533505.1:p.Val2985Ala
XM_011535204.1:c.8858T>C	XP_011533506.1:p.Val2953Ala
XM_011535205.1:c.8755T>C	XP_011533507.1:p.Leu2919=
NM_000059.4:c.8954T>C MANE Select	NP_000050.3:p.Val2985Ala